MCID: BRC094
MIFTS: 17

Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

Categories: Eye diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

MalaCards integrated aliases for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism:

Name: Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 57 72
Oculoosteocutaneous Syndrome 57 59
Brachymetapody Anodontia Hypotrichosis Albinoidism 53
Anodontia-Hypotrichosis Syndrome 57

Characteristics:

Orphanet epidemiological data:

59
oculoosteocutaneous syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
brachymetapody-anodontia-hypotrichosis-albinoidism:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 211370
ICD10 via Orphanet 34 Q87.5
UMLS via Orphanet 73 C1859385
Orphanet 59 ORPHA2713
MedGen 42 C1859385
UMLS 72 C1859385

Summaries for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

MalaCards based summary : Brachymetapody-Anodontia-Hypotrichosis-Albinoidism, is also known as oculoosteocutaneous syndrome, and has symptoms including irregular nystagmus Affiliated tissues include skin, eye and breast, and related phenotypes are low-set ears and nystagmus

More information from OMIM: 211370

Related Diseases for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

Symptoms & Phenotypes for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

Human phenotypes related to Brachymetapody-Anodontia-Hypotrichosis-Albinoidism:

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 low-set ears 32 HP:0000369
2 nystagmus 32 HP:0000639
3 cataract 32 HP:0000518
4 short stature 32 HP:0004322
5 opacification of the corneal stroma 32 HP:0007759
6 strabismus 32 HP:0000486
7 myopia 32 HP:0000545
8 short toe 32 HP:0001831
9 hypoplasia of the maxilla 32 HP:0000327
10 labial hypoplasia 32 HP:0000066
11 downslanted palpebral fissures 32 HP:0000494
12 hypotrichosis 32 HP:0001006
13 fine hair 32 HP:0002213
14 distichiasis 32 HP:0009743
15 short metacarpal 32 HP:0010049
16 sparse hair 32 HP:0008070
17 hypoplastic nipples 32 HP:0002557
18 sparse eyelashes 32 HP:0000653
19 short phalanx of finger 32 HP:0009803
20 absent axillary hair 32 HP:0002221
21 absent pubic hair 32 HP:0002555
22 short metatarsal 32 HP:0010743
23 anodontia 32 HP:0000674

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Growth Height:
short stature

Skin Nails Hair Hair:
absent axillary hair
absent pubic hair
thin eyelashes
thin hair

Skeletal Skull:
hypoplastic maxilla

Skeletal Hands:
short fingers
short metacarpals (3rd-5th)

Skin Nails Hair Skin:
albinoidism

Head And Neck Eyes:
cataract
strabismus
myopia
distichiasis
irregular nystagmus
more
Chest Breasts:
hypoplastic nipples
small breast
unpigmented areola

Head And Neck Teeth:
anodontia

Skeletal Feet:
short metatarsals
short toes (2nd-5th)

Genitourinary External Genitalia Female:
hypoplastic labia

Clinical features from OMIM:

211370

UMLS symptoms related to Brachymetapody-Anodontia-Hypotrichosis-Albinoidism:


irregular nystagmus

Drugs & Therapeutics for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

Search Clinical Trials , NIH Clinical Center for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

Genetic Tests for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

Anatomical Context for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

MalaCards organs/tissues related to Brachymetapody-Anodontia-Hypotrichosis-Albinoidism:

41
Skin, Eye, Breast, Bone

Publications for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

Articles related to Brachymetapody-Anodontia-Hypotrichosis-Albinoidism:

# Title Authors PMID Year
1
Three siblings with similar anomalies in the eyes, bones and skin. 8
4974459 1968

Variations for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

Expression for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

Search GEO for disease gene expression data for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism.

Pathways for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

GO Terms for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

Sources for Brachymetapody-Anodontia-Hypotrichosis-Albinoidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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